PHACTR2

Summary

PHACTR2 (phosphatase and actin regulator 2, HGNC:20956) is a protein-coding gene on chromosome 6q24.2, encoding Phosphatase and actin regulator 2 (O75167).

Predicted to enable actin binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson’s disease and multiple sclerosis. Biomarker of Alzheimer’s disease.

Source: NCBI Gene 9749 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy (Limited, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 121 total
• MANE Select transcript: NM_001100164

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20956
Approved symbol	PHACTR2
Name	phosphatase and actin regulator 2
Location	6q24.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0680
Ensembl gene	ENSG00000112419
Ensembl biotype	protein_coding
OMIM	608724
Entrez	9749

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 25 protein_coding, 4 retained_intron

ENST00000305766, ENST00000367582, ENST00000367584, ENST00000397980, ENST00000402863, ENST00000420771, ENST00000427704, ENST00000440869, ENST00000451827, ENST00000536245, ENST00000542769, ENST00000545919, ENST00000888542, ENST00000888543, ENST00000888544, ENST00000888545, ENST00000888546, ENST00000888547, ENST00000888548, ENST00000888549, ENST00000940786, ENST00000940787, ENST00000960136, ENST00000960137, ENST00000960138, ENST00000960139, ENST00000960140, ENST00000960141, ENST00000960142

RefSeq mRNA: 6 — MANE Select: NM_001100164 NM_001100164, NM_001100165, NM_001100166, NM_001394736, NM_001394738, NM_014721

CCDS: CCDS43512, CCDS47492, CCDS47493, CCDS47494, CCDS94015

Canonical transcript exons

ENST00000440869 — 13 exons

Exon	Start	End
ENSE00000764879	143760401	143760640
ENSE00001546874	143823674	143831185
ENSE00001547270	143677965	143678209
ENSE00002440164	143774059	143774215
ENSE00002511234	143807057	143807133
ENSE00002531424	143788773	143788910
ENSE00002532214	143772258	143772457
ENSE00002726944	143765261	143765798
ENSE00003479082	143783219	143783280
ENSE00003489037	143748985	143749065
ENSE00003519023	143777328	143777383
ENSE00003587870	143712016	143712183
ENSE00003688852	143753754	143753912

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 97.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.5610 / max 342.1206, expressed in 1789 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
70256	22.8788	1725
70250	8.1316	1572
70262	0.5684	239
70247	0.4573	210
70253	0.3812	90
70263	0.3191	135
70257	0.2638	113
70255	0.1909	72
70252	0.0838	48
70248	0.0755	19

Top tissues by expression

297 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
placenta	UBERON:0001987	97.77	gold quality
adrenal tissue	UBERON:0018303	97.33	gold quality
pigmented layer of retina	UBERON:0001782	96.96	gold quality
retina	UBERON:0000966	96.94	gold quality
heart right ventricle	UBERON:0002080	96.72	gold quality
amniotic fluid	UBERON:0000173	96.71	gold quality
lower lobe of lung	UBERON:0008949	96.52	gold quality
oral cavity	UBERON:0000167	96.39	gold quality
esophagus squamous epithelium	UBERON:0006920	96.22	gold quality
eye	UBERON:0000970	96.18	gold quality
palpebral conjunctiva	UBERON:0001812	95.94	gold quality
visceral pleura	UBERON:0002401	95.46	gold quality
tongue squamous epithelium	UBERON:0006919	95.37	gold quality
epithelium of esophagus	UBERON:0001976	95.13	gold quality
colonic epithelium	UBERON:0000397	94.69	gold quality
superficial temporal artery	UBERON:0001614	94.48	gold quality
trigeminal ganglion	UBERON:0001675	93.92	gold quality
urethra	UBERON:0000057	93.90	gold quality
pylorus	UBERON:0001166	93.61	gold quality
decidua	UBERON:0002450	93.35	gold quality
germinal epithelium of ovary	UBERON:0001304	93.21	gold quality
myocardium	UBERON:0002349	92.95	gold quality
trabecular bone tissue	UBERON:0002483	92.94	gold quality
choroid plexus epithelium	UBERON:0003911	92.82	gold quality
calcaneal tendon	UBERON:0003701	92.69	gold quality
squamous epithelium	UBERON:0006914	92.55	gold quality
cervix squamous epithelium	UBERON:0006922	92.53	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.48	gold quality
dorsal root ganglion	UBERON:0000044	92.36	gold quality
caput epididymis	UBERON:0004358	92.26	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	72.20
E-GEOD-83139	yes	8.26
E-GEOD-70580	no	670.27
E-MTAB-7008	no	600.37
E-MTAB-6678	no	3.47
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

357 targeting PHACTR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931

Literature-anchored findings (GeneRIF, showing 3)

• identified an association between Phactr2 SNP rs11155313 and Parkinson’s disease in US, Canadian and Irish patient populations, but not in a Norwegian population (PMID:19429005)
• The frequencies of genotype and allele in CHRNA3 (rs8040868) and PHACTR2 (rs9390123) were not significantly different between the NSCLC cases and controls, or between either of the subgroups. (PMID:25399010)
• rs9390123 and rs9399451 influence the DNA repair capacity of lung cancer by regulating PEX3 and PHACTR2AS1 expression instead of PHACTR2. (PMID:35059740)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	phactr2	ENSDARG00000027172
mus_musculus	Phactr2	ENSMUSG00000062866
rattus_norvegicus	Phactr2	ENSRNOG00000015473
drosophila_melanogaster	CG32264	FBGN0052264
caenorhabditis_elegans	phac-1	WBGENE00009174

Paralogs (3): PHACTR3 (ENSG00000087495), PHACTR1 (ENSG00000112137), PHACTR4 (ENSG00000204138)

Protein

Protein identifiers

Phosphatase and actin regulator 2 — O75167 (reviewed: O75167)

All UniProt accessions (5): O75167, F5H858, F6TH74, H9KVA6, J3KP75

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Binds PPP1CA and actin.

Subcellular location. Membrane Membrane.

Similarity. Belongs to the phosphatase and actin regulator family.

Isoforms (4)

UniProt ID	Names	Canonical?
O75167-1	1	yes
O75167-2	2
O75167-4	4
O75167-5	5

RefSeq proteins (6): NP_001093634, NP_001093635, NP_001093636, NP_001381665, NP_001381667, NP_055536 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004018	RPEL_repeat	Repeat

Pfam: PF02755

UniProt features (36 total): compositionally biased region 10, modified residue 5, repeat 4, sequence conflict 4, region of interest 4, splice variant 2, sequence variant 2, initiator methionine 2, lipid moiety-binding region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75167-F1	61.66	0.22

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7): 16, 25, 423, 522, 560, 2, 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation

MSigDB gene sets: 326 (showing top): GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, ATGTTAA_MIR302C, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, INAMURA_LUNG_CANCER_SCC_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, KIM_GERMINAL_CENTER_T_HELPER_UP, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, TIEN_INTESTINE_PROBIOTICS_24HR_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOMF_ACTIN_BINDING, SENESE_HDAC1_TARGETS_UP, VANTVEER_BREAST_CANCER_ESR1_DN, MODULE_397, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP

GO Biological Process (1): actin cytoskeleton organization (GO:0030036)

GO Molecular Function (3): actin binding (GO:0003779), protein phosphatase inhibitor activity (GO:0004864), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), platelet alpha granule membrane (GO:0031092), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	1
actin filament-based process	1
cytoskeletal protein binding	1
phosphoprotein phosphatase activity	1
phosphatase inhibitor activity	1
protein phosphatase regulator activity	1
binding	1
membrane	1
cell periphery	1
secretory granule membrane	1
platelet alpha granule	1
cellular anatomical structure	1

Protein interactions and networks

STRING

780 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHACTR2	PLAGL1	Q9UM63	608
PHACTR2	TBL2	Q9Y4P3	526
PHACTR2	TMEM150C	B9EJG8	472
PHACTR2	TOPORS	Q9NS56	459
PHACTR2	FUCA1	P04066	437
PHACTR2	MAGEA10	P43363	425
PHACTR2	GPRC5C	Q9NQ84	424
PHACTR2	SH3PXD2B	A1X283	418
PHACTR2	KCND3	Q9UK17	418
PHACTR2	KIF3A	Q9Y496	418
PHACTR2	SLITRK6	Q9H5Y7	418
PHACTR2	NKAPD1	Q6ZUT1	410
PHACTR2	ARFGEF3	Q5TH69	393
PHACTR2	OPN4	Q9UHM6	385
PHACTR2	ZC2HC1B	Q5TFG8	384

IntAct

30 interactions, top by confidence:

A	B	Type	Score
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
BCL7C	ARID1A	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
PHACTR2	POTEI	psi-mi:“MI:0914”(association)	0.530
PHACTR2	ACTA2	psi-mi:“MI:0914”(association)	0.530
CRK	PHACTR2	psi-mi:“MI:0915”(physical association)	0.400
PHACTR2	SRC	psi-mi:“MI:0915”(physical association)	0.400
GRB2	PHACTR2	psi-mi:“MI:0915”(physical association)	0.400
NCK1	PHACTR2	psi-mi:“MI:0915”(physical association)	0.400
PIK3R1	PHACTR2	psi-mi:“MI:0915”(physical association)	0.400
PLCG1	PHACTR2	psi-mi:“MI:0915”(physical association)	0.400
PHACTR2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
BCL7A	DPF1	psi-mi:“MI:0914”(association)	0.350
BCL7C	DPF1	psi-mi:“MI:0914”(association)	0.350
TMOD3	MEIS2	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
ACTB	ENAH	psi-mi:“MI:0914”(association)	0.350
ACTG1	ENAH	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
TMOD3	PRPF4	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
KCNK3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (46): PHACTR2 (Proximity Label-MS), PHACTR2 (Affinity Capture-MS), POTEI (Affinity Capture-MS), PHACTR2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTB (Affinity Capture-MS), PHACTR2 (Affinity Capture-MS), ACTC1 (Affinity Capture-MS), PHACTR2 (Affinity Capture-RNA), PHACTR2 (Affinity Capture-RNA), PHACTR2 (Affinity Capture-MS), PHACTR2 (Proximity Label-MS), PHACTR2 (Affinity Capture-RNA), HIST1H2BH (Proximity Label-MS)

ESM2 similar proteins: A0A0R4IZ84, A0A1L8H8C0, A0A1L8HFX9, A2RUV4, F1LP90, F5HSE3, O43310, O60237, O75167, O88453, P41110, P61406, Q12830, Q1LVF3, Q2HJG4, Q2PFD7, Q3TLH4, Q5RAK6, Q5ZMS6, Q66HC1, Q6A0A2, Q6NRP6, Q6NZL0, Q6P1U3, Q6PKG0, Q75N33, Q7TN02, Q7TPM1, Q7YZA2, Q7Z6E9, Q80TN7, Q80XI3, Q86UR5, Q86US8, Q8IVL0, Q8IVL1, Q8K0V4, Q8N4C8, Q90YL3, Q90YY5

Diamond homologs: F1MCY2, F1N8V3, F1QIC4, F7EC58, O75167, P62024, P62025, Q2M3X8, Q501J7, Q5HZA1, Q5RAU1, Q5XHF3, Q6GLU8, Q6PEI3, Q6RFY2, Q801X6, Q8BYK5, Q8IZ21, Q96KR7, Q9C0D0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 31 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the canonical BAF (cBAF) complex	5	117.5×	1e-07
Downstream signal transduction	6	84.6×	3e-08
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	5	84.6×	3e-07
Regulation of MITF-M-dependent genes involved in pigmentation	5	49.2×	3e-06
FCGR3A-mediated phagocytosis	6	41.6×	5e-07
Regulation of actin dynamics for phagocytic cup formation	5	34.1×	1e-05
MITF-M-dependent gene expression	5	33.6×	1e-05
VEGFA-VEGFR2 Pathway	6	30.9×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
regulation of G0 to G1 transition	5	116.2×	2e-07
regulation of nucleotide-excision repair	5	103.8×	2e-07
regulation of mitotic metaphase/anaphase transition	5	85.5×	4e-07
positive regulation of double-strand break repair	5	59.3×	2e-06
regulation of G1/S transition of mitotic cell cycle	5	52.8×	3e-06
chromatin remodeling	5	12.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

121 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3465 predictions. Top by Δscore:

Variant	Effect	Δscore
6:143712011:TACA:T	acceptor_loss	1.0000
6:143712013:C:G	acceptor_gain	1.0000
6:143712013:CAGTT:C	acceptor_loss	1.0000
6:143712014:A:AG	acceptor_gain	1.0000
6:143712014:A:AT	acceptor_loss	1.0000
6:143712015:G:GT	acceptor_gain	1.0000
6:143712015:GT:G	acceptor_gain	1.0000
6:143712015:GTT:G	acceptor_gain	1.0000
6:143712181:CAGG:C	donor_loss	1.0000
6:143712182:AG:A	donor_loss	1.0000
6:143712183:GGTAT:G	donor_loss	1.0000
6:143712184:G:T	donor_loss	1.0000
6:143712185:T:A	donor_loss	1.0000
6:143748983:A:G	acceptor_gain	1.0000
6:143755448:G:GT	donor_gain	1.0000
6:143755448:G:T	donor_gain	1.0000
6:143772253:A:AG	acceptor_gain	1.0000
6:143772254:A:G	acceptor_gain	1.0000
6:143772256:A:AG	acceptor_gain	1.0000
6:143772257:G:GC	acceptor_gain	1.0000
6:143772257:GT:G	acceptor_gain	1.0000
6:143772257:GTT:G	acceptor_gain	1.0000
6:143772257:GTTTC:G	acceptor_gain	1.0000
6:143772442:G:GT	donor_gain	1.0000
6:143772454:GAAA:G	donor_gain	1.0000
6:143772455:A:T	donor_gain	1.0000
6:143772456:AA:A	donor_gain	1.0000
6:143772456:AAGTA:A	donor_loss	1.0000
6:143772457:AG:A	donor_loss	1.0000
6:143772458:G:C	donor_loss	1.0000

AlphaMissense

4171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:143712132:T:A	W44R	1.000
6:143712132:T:C	W44R	1.000
6:143774209:T:C	L517S	1.000
6:143777333:T:C	L521P	1.000
6:143777360:T:C	L530S	1.000
6:143788801:T:C	L568P	1.000
6:143788824:T:C	F576L	1.000
6:143788825:T:C	F576S	1.000
6:143788826:T:A	F576L	1.000
6:143788826:T:G	F576L	1.000
6:143788884:T:A	W596R	1.000
6:143788884:T:C	W596R	1.000
6:143788886:G:C	W596C	1.000
6:143788886:G:T	W596C	1.000
6:143788894:T:C	L599S	1.000
6:143788908:A:C	K604Q	1.000
6:143788908:A:G	K604E	1.000
6:143788910:G:C	K604N	1.000
6:143788910:G:T	K604N	1.000
6:143807064:T:A	I607K	1.000
6:143807064:T:C	I607T	1.000
6:143807064:T:G	I607R	1.000
6:143807067:G:C	R608T	1.000
6:143807067:G:T	R608M	1.000
6:143807068:G:C	R608S	1.000
6:143807068:G:T	R608S	1.000
6:143807076:T:A	L611Q	1.000
6:143807076:T:C	L611P	1.000
6:143807080:T:A	N612K	1.000
6:143807080:T:G	N612K	1.000

dbSNP variants (sampled 300 via entrez): RS1000024477 (6:143731840 A>G), RS1000050741 (6:143704178 A>C,T), RS1000086909 (6:143578965 G>A), RS1000093766 (6:143662249 G>A), RS1000095020 (6:143743263 G>A,T), RS1000104376 (6:143660226 C>T), RS1000106262 (6:143537052 C>CGGT), RS1000122655 (6:143577057 GGTT>G), RS1000129201 (6:143626512 G>A,C), RS1000149644 (6:143788268 A>T), RS1000178457 (6:143757739 A>G,T), RS1000193494 (6:143803790 A>G,T), RS1000204628 (6:143663798 A>C), RS1000216400 (6:143794708 C>T), RS1000219956 (6:143626473 C>G)

Disease associations

OMIM: gene MIM:608724 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy	Limited	Autosomal recessive

Mondo (1): dilated cardiomyopathy (MONDO:0005021)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001572_3	Erectile dysfunction in type 1 diabetes	4.000000e-06
GCST001721_2	Lung Cancer (DNA repair capacity)	7.000000e-06
GCST001725_91	Inflammatory bowel disease	2.000000e-08
GCST001762_15	Obesity-related traits	8.000000e-06
GCST007675_3	3-month functional outcome in non-lacunar ischaemic stroke (modified Rankin score)	2.000000e-06
GCST008760_12	Perceived sweetness of sucrose	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009603	stroke outcome severity measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression	7
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Cyclosporine	decreases expression	3
methylmercuric chloride	increases expression, affects cotreatment	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases abundance	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
torcetrapib	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
jinfukang	decreases expression	1

Clinical trials (associated diseases)

158 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546	PHASE1	TERMINATED	Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603	PHASE1	UNKNOWN	Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956	PHASE1	COMPLETED	A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081	PHASE1	UNKNOWN	Treating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466	PHASE1	TERMINATED	A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588	PHASE1	RECRUITING	A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896	PHASE1	COMPLETED	Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338	PHASE1	RECRUITING	A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104	PHASE1	RECRUITING	A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy